Finding Support and Information When Your Child Receives a Rare Disease Diagnosis
When your child receives a new medical diagnosis it can be helpful to seek support from other parents and caregivers who have been in your shoes. But if your child is diagnosed with a rare disease or condition it can be difficult to find information or a community of other families who share your experience. In this guide you’ll find resources that may help you as you begin to navigate life as the caregiver for a child with a rare medical condition.
Becoming an Expert on Your Child’s Diagnosis
Doctors, nurses, and medical professionals have trained for years to learn in how to diagnose, treat and care for patients, but not every doctor knows everything about every condition. You may find that when you attend appointments with non-specialists or make a visit to an urgent care center, for example, that you know more about your child’s diagnosis than anyone else in the room. Should you find yourself in a situation where your child needs emergency care, or treatment for an injury or illness unrelated to their rare diagnosis, it will be important to be prepared to speak up about their needs in case it may impact treatment decisions.
The National Organization for Rare Disorders has a database of informational resources on a variety of rare diagnoses. You can search the database for information on your child’s specific diagnosis, and for links to additional resources that have been vetted by rare disease experts. Use their clinical trial finder to see if there are any open research studies with a trial option for your child.
The Genetic and Rare Diseases Information Center (GARD) is an online resource site operated by the National Institutes of Health (NIH). Search the site for guides and other informational resource that can help you build your knowledge base of your child’s diagnosis. The clinical trial finder from the NIH lists federally funded research studies and their current statuses.
Advocating for Your Child’s Needs
Parents are the most important advocate when it comes to seeking care for their child’s medical conditions or special needs. While you will meet specialists who have expertise related to your child’s needs, you are the expert when it comes to your own individual child. Being their voice can be intimidating at times, and these parent-recommended resources can help you prepare for those moments when you may feel overwhelmed by medical needs and decisions.
This article from Parenting Special Needs Magazine offers definitions for the terms advocacy and advocate, and introduces some of the individuals you may encounter who will be advocating for your child’s needs throughout their life.
This follow-up article from Parenting Special Needs Magazine offers 8 tips to prepare yourself for being your child’s advocate from caring for yourself, to learning to share the advocacy role with your partner or other trusted friend/family member, and learning to communicate effectively with your child’s care team.
Your child’s medical challenge may have an impact on their educational needs due to a developmental delay, a need for special adaptations and accommodation in the classroom, or due to missed classroom time for medical appointments or procedures. This article from Very Well Family offers tips for becoming an advocate for your child’s educational needs.
Record Keeping and Managing Paperwork
Creating an organization system, whether it’s a physical binder or electronic file, will help you to recall and share pertinent medical information with members of your child’s care team. Staying organized from the start will save you time and energy as needs arise in the future. These resources will help you manage paperwork and information related to your child’s diagnosis and care.
This article from Johns Hopkins includes a list of the medical documentation that you should save and record with each appointment.
From Parenting Special Needs Magazine, this podcast and information summary addresses the need for organization and offers tips for getting all the paperwork you receive organized.
No one wants to think about their own death, but we have to face the fact that everyone does die. Planning for your child’s care needs future after you pass away is essential, especially if they will have ongoing needs as an adult. These resources can help you organize your own estate and simplify things for the person or people who will care for your child after your death.
Having a will is a great first step to preparing for a future where you are not present to care for your child. Visit FreeWill.com to get a start on preparing a will.
The NokBox is a great organizational tool that gives you step by step instructions and worksheets for assembling important documents, passwords, and account information for your “Next of Kin.”
Anticipating Change and Planning for Your Child’s Future
It’s been said that “the only constant is change,” and no one knows this better than the parent of a child with a special need or medical challenge. Kids grow and change so quickly, and their care needs will grow and change right along with them. These resources can help you anticipate some of the challenges your child may have as they grow.
There are many resources that our children have access to during their childhood, through their school and other organizations. However, there is often a “services cliff” when children reach adulthood. Anticipating this cliff can help children with ongoing needs become more independent and live their full potential as adults. This podcast from Kojo Nnamdi is a great starting place as you begin to think about the child to adult transition (and it is never too early to start thinking about this transition).
VitalXChange Vital Guides are parents who have experience navigating transitions and change for children with special needs and medical challenges. Use their site to connect directly with a mentor who can help guide you through some of the needs your child will have as they grow up with a rare medical condition.
Finding Your Support Community
Finding a community of support when your child has a diagnosis that effects only a small portion of the population can be difficult. The internet, social media, and the rise of virtual communication tools have made it easier to find others whose children have the same, or similar medical conditions.
Family Voices is a national organization for families and friends of children and youth with special health care needs and disabilities. Their site includes a variety of resources including links to local affiliate organizations that can provide support for your family close to home.
The National Organization for Rare Disorders has a database of rare disease organizations, many of which have family support programs.
Help your child feel special with a teddy bear that is as unique as they are. The Rare Bear program provides custom stuffed bears for children with a rare disease diagnosis. Each bear is made by hand and is completely unique, just like your child!
Parent to Parent USA (P2P) is an organization dedicated to supporting caregivers of children who have special needs. Use the search tool on their website to find a local affiliate and resources near you.
Advocating and raising awareness for a cause can help you meet others and unite under a common goal. Rare Disease Day is the globally-coordinated movement on rare diseases, working towards equity in social opportunity, healthcare, and access to diagnosis and therapies for people living with a rare disease. Since its creation in 2008, Rare Disease Day has played a critical part in building an international rare disease community that is multi-disease, global, and diverse– but united in purpose. Rare Disease Day is observed every year on February 28th, or 29th in leap years, since it’s the rarest day of the year!
Traveling for Medical Care
It may be necessary to travel to another city or state for medical care if the expertise needed to treat your child’s rare condition are not available close to home. These resources can help you locate medical experts, find clinical trials and treatment options, and find lodging, transportation and other travel related support for your family.
Ronald McDonald House Charities® operates houses and other support services around the world for families of children undergoing medical treatment. Use the RMHC Chapter Locator to see if there is a Ronald McDonald House near your destination that may be able to house your family near your child’s medical services.
Financing your travel or finding funding for treatment needs or devices not covered by insurance can hinder your child’s care. This Red Treehouse guide has resources for finding funding for your family if you have a child with medical or other special needs.
If you are traveling for medical care check out Mercy Medical Angels to see if you may qualify for financial support for your trip. If you’re traveling by air with a child who has complicated medical needs be sure to check with the Transportation Safety Administration for accommodations that may be available for your family.
More Support for Your Family
The following guides from RedTreehouse.org have additional resources that may be helpful to parents of children with a rare disease diagnosis.
Siblings of children with special needs and medical challenges have their own care needs. This guide, inspired by a special needs sibling, has resources for the brothers and sisters of your medically complex child.
Palliative care is an underused resource, often because it is believed to be only for individuals who are nearing the end of their life. But palliative care is for anyone with a serious illness that impacts their quality of life. Check out this guide on pediatric palliative care to see if it could help you manage your child’s medical treatment.
A medical identification/alert accessory can be a literal life saver in an emergency. Check out this resource guide for suggestions on how to help first responders identify your child’s care needs if you’re not available to communicate those needs right away.
Written By: Margaret Block, RedTreehouse.org Content Contributor. Margaret is a mother of two, including a child born with a rare frontal encephalocele and multiple congenital brain abnormalities.